A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059242



Internal ID18801773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:469797..683607hg38UCSC Ensembl
Innerchr18:469797..683607hg19UCSC Ensembl
Innerchr18:459797..673607hg18UCSC Ensembl
Cytoband18p11.32
Allele length
AssemblyAllele length
hg38213811
hg19213811
hg18213811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3307n100
Supporting Variantsnssv3563891, nssv3563892
Samples
Known GenesC18orf56, CETN1, CLUL1, COLEC12, ENOSF1, TYMS
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059242
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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